Canonical Allele Identifier: CA913187110

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795212_11795220del , CM000663.2:g.11795212_11795220del	GRCh38
NC_000001.10:g.11855269_11855277del , CM000663.1:g.11855269_11855277del	GRCh37
NC_000001.9:g.11777856_11777864del	NCBI36
NG_013351.1:g.15884_15892del , LRG_726:g.15884_15892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1032_1040del	ENSP00000365770.1:p.Ser345_Cys347del
ENST00000376590.9:c.909_917del MANE Select	ENSP00000365775.3:p.Ser304_Cys306del
ENST00000376592.6:c.909_917del	ENSP00000365777.1:p.Ser304_Cys306del
ENST00000423400.7:c.1029_1037del	ENSP00000398908.3:p.Ser344_Cys346del
ENST00000641407.1:c.909_917del	ENSP00000493098.1:p.Ser304_Cys306del
ENST00000641446.1:c.909_917del	ENSP00000493262.1:p.Ser304_Cys306del
ENST00000641721.1:n.772_780del
ENST00000641747.1:c.*421_*429del	ENSP00000493116.1:n.*421_*429del
ENST00000641759.1:n.1044_1052del
ENST00000641805.1:n.1192_1200del
ENST00000641820.1:c.174_182del	ENSP00000492937.1:p.Ser59_Cys61del
ENST00000376583.7:c.1032_1040del	ENSP00000365767.3:p.Ser345_Cys347del
ENST00000376585.5:c.1032_1040del	ENSP00000365770.1:p.Ser345_Cys347del
ENST00000376590.7:c.909_917del	ENSP00000365775.3:p.Ser304_Cys306del
ENST00000376592.5:c.909_917del	ENSP00000365777.1:p.Ser304_Cys306del
NM_005957.4:c.909_917del , LRG_726t1:c.909_917del	NP_005948.3:p.Ser304_Cys306del
XM_005263458.2:c.1032_1040del	XP_005263515.1:p.Ser345_Cys347del
XM_005263460.3:c.909_917del	XP_005263517.1:p.Ser304_Cys306del
XM_005263461.3:c.909_917del	XP_005263518.1:p.Ser304_Cys306del
XM_005263462.3:c.909_917del	XP_005263519.1:p.Ser304_Cys306del
XM_005263463.2:c.663_671del	XP_005263520.1:p.Ser222_Cys224del
XM_011541495.1:c.1029_1037del	XP_011539797.1:p.Ser344_Cys346del
XM_011541496.1:c.1032_1040del	XP_011539798.1:p.Ser345_Cys347del
NM_001330358.1:c.1032_1040del	NP_001317287.1:p.Ser345_Cys347del
XM_005263460.5:c.909_917del	XP_005263517.1:p.Ser304_Cys306del
XM_005263462.4:c.909_917del	XP_005263519.1:p.Ser304_Cys306del
XM_005263463.4:c.663_671del	XP_005263520.1:p.Ser222_Cys224del
XM_011541495.3:c.1029_1037del	XP_011539797.1:p.Ser344_Cys346del
XM_011541496.3:c.1032_1040del	XP_011539798.1:p.Ser345_Cys347del
XM_017001328.2:c.1032_1040del	XP_016856817.1:p.Ser345_Cys347del
XM_024447198.1:c.663_671del	XP_024302966.1:p.Ser222_Cys224del
XR_002956640.1:n.1776_1784del
NM_005957.5:c.909_917del MANE Select	NP_005948.3:p.Ser304_Cys306del
NM_001330358.2:c.1032_1040del	NP_001317287.1:p.Ser345_Cys347del